| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6034818T>A | CA383520241 | VWF | c.2555A>T (p.Gln852Leu) n.421-40884A>T | dbSNP |
| 12 | g.6034818T>C | CA6403022 | VWF | c.2555A>G (p.Gln852Arg) n.421-40884A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6034818T= | CA645509542 | VWF | c.2555A= (p.Gln852=) n.421-40884A= | ClinVar dbSNP |